Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination...

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Main Authors:	Behshad Charkhand, Morris H. Scantlebury, Aya Narita, Ari Zimran, Walla Al-Hertani
Format:	Article
Language:	English
Published:	Elsevier 2019-09-01
Series:	Molecular Genetics and Metabolism Reports
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426919300321

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spelling	doaj-491428c4575e4025934c51504e1fa8ee2020-11-24T21:34:29ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-09-0120Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher diseaseBehshad Charkhand0Morris H. Scantlebury1Aya Narita2Ari Zimran3Walla Al-Hertani4Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, CanadaAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, CanadaInstitute of Neurological Science, Tottori University, Yonago, JapanShaare Zedek Medical Center, Hebrew University, Jerusalem, IsraelDepartment of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Corresponding author at: Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3. Keywords: Ambroxol, Glucosylsphingosine, Gaucher, Ataxia, Epilepsy, Lyso-Gb1, Lyso-GL1http://www.sciencedirect.com/science/article/pii/S2214426919300321
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Behshad Charkhand Morris H. Scantlebury Aya Narita Ari Zimran Walla Al-Hertani
spellingShingle	Behshad Charkhand Morris H. Scantlebury Aya Narita Ari Zimran Walla Al-Hertani Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease Molecular Genetics and Metabolism Reports
author_facet	Behshad Charkhand Morris H. Scantlebury Aya Narita Ari Zimran Walla Al-Hertani
author_sort	Behshad Charkhand
title	Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_short	Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_full	Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_fullStr	Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_full_unstemmed	Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
title_sort	effect of ambroxol chaperone therapy on glucosylsphingosine (lyso-gb1) levels in two canadian patients with type 3 gaucher disease
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2019-09-01
description	Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3. Keywords: Ambroxol, Glucosylsphingosine, Gaucher, Ataxia, Epilepsy, Lyso-Gb1, Lyso-GL1
url	http://www.sciencedirect.com/science/article/pii/S2214426919300321
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Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

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